@article{Tsuchida2018538,
title = {GRIN2D variants in three cases of developmental and epileptic encephalopathy},
author = {N Tsuchida and K Hamada and M Shiina and M Kato and Y Kobayashi and J Tohyama and K Kimura and K Hoshino and V Ganesan and K W Teik and M Nakashima and S Mitsuhashi and T Mizuguchi and A Takata and N Miyake and H Saitsu and K Ogata and S Miyatake and N Matsumoto},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85056487337&doi=10.1111%2fcge.13454&partnerID=40&md5=f0d32670db57261820bc244943cffd62},
doi = {10.1111/cge.13454},
issn = {00099163},
year = {2018},
date = {2018-01-01},
journal = {Clinical Genetics},
volume = {94},
number = {6},
pages = {538-547},
publisher = {Blackwell Publishing Ltd},
abstract = {N-methyl-d-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy. All altered residues were highly conserved across vertebrates and among the four GluN2 subunits. Structural consideration indicated that all three variants are probably to impair GluN2D function, either by affecting intersubunit interaction or altering channel gating activity. We assessed the clinical features of our three cases and compared them to those of the two previously reported GRIN2D variant cases, and found that they all show similar clinical features. This study provides further evidence of GRIN2D variants being causal for epilepsy. Genetic diagnosis for GluN2-related disorders may be clinically useful when considering drug therapy targeting NMDA receptors. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd},
note = {cited By 4},
keywords = {Adolescent, Allele, Amino Acid Sequence, Amino Acid Substitution, Amino Terminal Sequence, Anemia, Antibiotic Agent, Antibiotic Therapy, Article, Atonic Seizure, Attention Deficit Disorder, Autism, Binding Affinity, Brain, Brain Atrophy, Carbamazepine, Case Report, Channel Gating, Chemistry, Children, Clinical Article, Clinical Feature, Clobazam, Clonazepam, Conformational Transition, Continuous Infusion, Contracture, Crystal Structure, Cysteine Ethyl Ester Tc 99m, Developmental Delay, Developmental Disorders, Electroencephalogram, Electroencephalography, Epilepsy, Epileptic Discharge, Ethosuximide, Eye Tracking, Febrile Convulsion, Female, Frontal Lobe Epilepsy, Gene, Gene Frequency, Genetic Variation, Genetics, Genotype, GRIN2D Protein, Heterozygosity, Home Oxygen Therapy, Human, Human Cell, Hydrogen Bond, Intellectual Impairment, Intelligence Quotient, Intractable Epilepsy, Ketamine, Lacosamide, Lamotrigine, Lennox Gastaut Syndrome, Levetiracetam, Magnetoencephalography, Male, Maternal Hypertension, Melatonin, Migraine, Missense Mutation, Molecular Dynamics, Molecular Dynamics Simulation, Mutation, Myoclonus Seizure, N Methyl Dextro Aspartic Acid Receptor, N Methyl Dextro Aspartic Acid Receptor 2D, N-Methyl-D-Aspartate, Neonatal Pneumonia, Neonatal Respiratory Distress Syndrome, Neuroimaging, Nuclear Magnetic Resonance Imaging, Phenobarbital, Premature Labor, Preschool, Preschool Child, Priority Journal, Protein Conformation, Proximal Interphalangeal Joint, Pyridoxine, Receptors, Respiratory Arrest, Sanger Sequencing, School Child, Single Photon Emission Computed Tomography, Sleep Disordered Breathing, Static Electricity, Stridor, Structure-Activity Relationship, Subglottic Stenosis, Superior Temporal Gyrus, Supramarginal Gyrus, Thiopental, Tonic Seizure, Valproic Acid, Wakefulness, Wechsler Intelligence Scale for Children, Whole Exome Sequencing},
pubstate = {published},
tppubtype = {article}
}

@article{Salih2012244,
title = {Characteristics of seizure frequency among Malaysian children diagnosed with structural-metabolic epilepsy},
author = {M R M Salih and M B Bahari and M A A Hassali and A A Shafie and O Q B Al-Lela and A Y Abd and V M Ganesan},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870233746&doi=10.4103%2f0976-3147.102596&partnerID=40&md5=039bd22d6c38366ebfdd00a4254c20f0},
doi = {10.4103/0976-3147.102596},
issn = {09763147},
year = {2012},
date = {2012-01-01},
journal = {Journal of Neurosciences in Rural Practice},
volume = {3},
number = {3},
pages = {244-250},
abstract = {Introduction: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 months, the required data were extracted from the medical records using a pre-designed data collection form. Results: Seizure frequency showed no significant association with patient's demographics and clinical characteristic. However, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, respectively) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Conclusion: Among children with structural-metabolic epilepsy, Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients.},
note = {cited By 1},
keywords = {Adolescent, Anticonvulsive Agent, Article, Autism, Benign Childhood Epilepsy, Brain Disease, Carbamazepine, Cerebral Palsy, Children, Chinese, Clonazepam, Cohort Analysis, Congenital Toxoplasmosis, Controlled Study, Corpus Callosum Agenesis, Dandy Walker Syndrome, Degenerative Disease, Developmental Disorders, Disorders of Mitochondrial Functions, Down Syndrome, Epilepsy, Ethnicity, Etiracetam, Female, Focal Epilepsy, Happy Puppet Syndrome, Human, Hydrocephalus, Indian, Intellectual Impairment, Lamotrigine, Major Clinical Study, Malay, Male, Medical Record, Microcephaly, Monotherapy, Preschool Child, Priority Journal, Retrospective Study, School Child, Seizure, Structural Metabolic Epilepsy, Tuberous Sclerosis, Valproic Acid, Wilson Disease},
pubstate = {published},
tppubtype = {article}
}